Pediatric neurology最新文献

{"title":"Dengue-Associated Acute Necrotizing Encephalopathy Is an Acute Necrotizing Encephalopathy Variant Rather than a Mimic: Evidence From a Systematic Review","authors":"Sophie Barron MD ,&nbsp;Velda X. Han MD, PhD ,&nbsp;Juhi Gupta MD ,&nbsp;Lokesh Lingappa MD ,&nbsp;Naveen Sankhyan MD ,&nbsp;Terrence Thomas MD","doi":"10.1016/j.pediatrneurol.2024.09.021","DOIUrl":"10.1016/j.pediatrneurol.2024.09.021","url":null,"abstract":"<div><h3>Background</h3><div>Bilateral hemorrhagic thalamic lesions in dengue encephalitis resemble lesions seen in acute necrotizing encephalopathy (ANE). We investigate whether dengue-associated ANE (DANE) should be considered an ANE variant or a mimic.</div></div><div><h3>Methods</h3><div>Systematic review of dengue encephalitis literature from PubMed and SCOPUS (inception to December 31, 2022). Diagnostic criteria for ANE, acute encephalitis (AE), acute disseminated encephalomyelitis (ADEM), and infection-triggered encephalopathy syndromes were applied.</div></div><div><h3>Results</h3><div>Data on 162 patients (median age 20 [0.4 to 79] years; 69 [42.3%] female; 72 [44.4%] aged ≤18 years) from 103 articles were analyzed. DANE (62, 38.3%) was the commonest, followed by AE (56, 34.6%) and ADEM (27, 16.7%). The main clinical features were fever (100%), thrombocytopenia (79.0%), headache (57.8%), and seizures (43.7%). Patients with DANE had earlier neurological deterioration (3.5 [1 to 8] vs 5 [1 to 14] days in other encephalitis syndromes, <em>P</em> = 0.0127), seizures (54.2% vs 37.4%, <em>P</em> = 0.0471), higher cerebrospinal fluid (CSF) protein (0.92 [0.18 to 4.8] vs 0.73 [1 to 16] g/L, <em>P</em> = 0.0469), thalamic (100% vs 8.0%) and hemorrhagic brain lesions (73.3% vs 7.5%, <em>P</em> &lt; 0.0001). CSF pleocytosis and positive CSF dengue IgM/viral polymerase chain reaction were reported in 66.7% and 78.6% with DANE. Mortality was 16.1% in DANE, and 40.6% of survivors had disability. High-risk ANE severity scores predicted poor outcomes (positive predictive value 64.3% [95% confidence interval 38.8% to 83.7%]).</div></div><div><h3>Conclusion</h3><div>DANE differs from other dengue encephalitis syndromes and is clinicoradiologically indistinguishable from sporadic ANE with sufficient evidence to be considered an ANE variant.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 208-215"},"PeriodicalIF":3.2,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142505746","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cenobamate's Efficacy for Seizure Treatment in Tuberous Sclerosis Complex","authors":"Gewalin Aungaroon MD ,&nbsp;Alexander Cooke BS ,&nbsp;David Ritter MD, PhD ,&nbsp;Darcy Krueger MD, PhD ,&nbsp;Paul Horn PhD ,&nbsp;David N. Franz MD","doi":"10.1016/j.pediatrneurol.2024.09.023","DOIUrl":"10.1016/j.pediatrneurol.2024.09.023","url":null,"abstract":"<div><h3>Background</h3><div>Epilepsy is prevalent, and seizure control is challenging in patients with tuberous sclerosis complex (TSC). Cenobamate (CBM) has proven efficacy in several studies; however, its benefit in the TSC population is not known.</div></div><div><h3>Methods</h3><div>We performed a retrospective review of patients with TSC who received adjunctive CBM for seizure treatments. We assessed treatment efficacy by comparing seizure frequencies three months before CBM (baseline) and those at 3-, 6-, 12-, and 18- month follow-ups.</div></div><div><h3>Results</h3><div>We identified 70 patients with TSC receiving CBM and excluded 16 with insufficient data. Fifty-four patients aged 2 to 39 years, with an average baseline seizure of 66.1 ± 88.9 per month, were analyzed. Treatment retention rates at 3, 6, 12, and 18 months were 94.4%, 79.6%, 66.7%, 44.4%, and responder rates (proportions of patients who remained on treatment and had ≥50% seizure reduction) were 38.1%, 51.7%, 53.1%, and 59.1%, respectively. Seizure-free rates at these respective follow-ups were 7.1%, 13.8%, 6.3%, and 9.1%. For patients experiencing reduced seizures, the mean percentage of change ranged from 61.5% to 74.6%. Side effects were common (64.8%), particularly sedation (42.6%), behavioral disturbance (24.1%), and gastrointestinal disturbance (22.2%).</div></div><div><h3>Conclusions</h3><div>Most patients in this study showed seizure reduction; however, the overall responder and seizure-free rates were lower than the literature, likely due to the unique underlying epileptogenesis in TSC and the challenges of tolerating CBM. The lower treatment retention rates signal areas for improvement in concurrent medication adjustment practices.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 201-207"},"PeriodicalIF":3.2,"publicationDate":"2024-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142472238","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Beyond Numbers: A Call to Action for Accurate Estimation of Spinal Muscular Atrophy in the Middle East and North Africa Region","authors":"Maryam Bemanalizadeh MD ,&nbsp;Vahid Mansouri MD","doi":"10.1016/j.pediatrneurol.2024.09.024","DOIUrl":"10.1016/j.pediatrneurol.2024.09.024","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 182-184"},"PeriodicalIF":3.2,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142426937","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cerebrovascular Injury From Early-Onset Neonatal Escherichia coli Meningitis: Expanding the Clinical-Radiologic Phenotype","authors":"Francesca G. García MD ,&nbsp;Yi Li MD ,&nbsp;Rachel Vassar MD ,&nbsp;Cheryl Hawkins MD ,&nbsp;Mark Petersen MD ,&nbsp;Dawn Gano MD, MAS","doi":"10.1016/j.pediatrneurol.2024.09.020","DOIUrl":"10.1016/j.pediatrneurol.2024.09.020","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 167-169"},"PeriodicalIF":3.2,"publicationDate":"2024-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142400970","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring the Genetic Landscape of Epilepsy With Eyelid Myoclonia: A Comprehensive Review on Clinical Features and Diagnostic Challenges","authors":"Samia Aziz Sulaiman MD ,&nbsp;Ihda Bani Khalaf MD ,&nbsp;Ahmad E. Saeed MD ,&nbsp;Waseem Hoshan MD ,&nbsp;Ahmed W. Hageen MBBCh ,&nbsp;Jatin Motwani MBBS ,&nbsp;Aman Goyal MBBS","doi":"10.1016/j.pediatrneurol.2024.09.018","DOIUrl":"10.1016/j.pediatrneurol.2024.09.018","url":null,"abstract":"<div><div>Jeavons syndrome (JS), also known as epilepsy with eyelid myoclonia (EEM), is an idiopathic epileptic syndrome that primarily affects children. JS constitutes a significant portion of idiopathic generalized epilepsies and overall epileptic conditions and is characterized by frequent eyelid myoclonia. JS is often triggered by factors such as eyelid closure and exposure to light, leading to absence seizures with photoparoxysmal responses. Although previous studies indicate that some genes have demonstrated an association with the syndrome, no definitive causative gene has yet been identified. The current review therefore aims to shed emphasis on the potential value genetic testing holds in the context of EEM, as well as the need to investigate potential early diagnosis and management strategies in future research.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 176-181"},"PeriodicalIF":3.2,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142406695","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Severe Epilepsy in an Individual With a TSC2 R905Q Variant Prompting Late Diagnosis in Affected Family Members","authors":"Alice Man BSc ,&nbsp;Matteo Di Scipio BSc ,&nbsp;Breanne Dale MSc, CGC ,&nbsp;Paula Teixeira Marques MD ,&nbsp;Cynthia Sloan Birbeck BScN, RN, MN ,&nbsp;Puneet Jain MBBS, MD, DM ,&nbsp;Elisabetta Trinari MD, MSc ,&nbsp;Resham Ejaz MD ,&nbsp;Robyn Whitney MD","doi":"10.1016/j.pediatrneurol.2024.09.014","DOIUrl":"10.1016/j.pediatrneurol.2024.09.014","url":null,"abstract":"<div><h3>Background</h3><div>Tuberous sclerosis complex (TSC) is a multisystemic disorder caused by inactivating variants in the mTOR pathway inhibitor genes <em>TSC1</em> and <em>TSC2</em>. Individuals with TSC are predisposed to benign tumors in multiple organs as well as TSC-associated neuropsychiatric disorders (TAND) and epilepsy. Pathogenic variants in <em>TSC2</em> are typically associated with a more severe phenotype compared with <em>TSC1</em>; the <em>TSC2</em> R905Q variant has been shown to be an exception, where patients have been reported to present with unusually mild TSC features that may be undetected.</div></div><div><h3>Methods</h3><div>We studied the TSC phenotype of a 13-year-old individual and three family members with a <em>TSC2</em> c.2714G&gt;A (R905Q) pathogenic variant.</div></div><div><h3>Results</h3><div>Patient 1 presented with severe medically refractory epilepsy without tubers or subependymal nodules and only mild dermatologic features of TSC missed on virtual examinations. Her mother and maternal aunt (Patients 2 and 3–diagnosed after age 50 years) presented with a mild phenotype, with dermatologic features and TAND. Her maternal uncle (Patient 4–diagnosed at age 47 years) displayed the most severe phenotype, presenting with intellectual disability, medically refractory epilepsy, obsessive-compulsive disorder, post-traumatic stress disorder, and psychosis.</div></div><div><h3>Conclusions</h3><div>This study expands the possible phenotypic spectrum of <em>TSC2</em> R905Q variant, demonstrating an association with severe epilepsy without associated neuroradiological stigmata. This presentation highlights the possibility of occult focal cortical dysplasia in TSC and emphasizes the importance of genetic testing in individuals with severe epilepsy. Moreover, a late adult diagnosis was subsequently made in other family members allowing for appropriate TSC surveillance to occur.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 158-161"},"PeriodicalIF":3.2,"publicationDate":"2024-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142392413","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rare CCND2 (p.Thr280Ile) Variant Associated With Infantile Spasms in a Patient With Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome","authors":"Kent M. Mok MD ,&nbsp;Jessica L. Carpenter MD ,&nbsp;Pamela Herrada MS, CGC ,&nbsp;Carol Greene MD ,&nbsp;Sandrine Yazbek MD ,&nbsp;Gozde Erdemir MD","doi":"10.1016/j.pediatrneurol.2024.09.016","DOIUrl":"10.1016/j.pediatrneurol.2024.09.016","url":null,"abstract":"<div><h3>Background</h3><div>This report describes a pediatric case of megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome, a rare neurodevelopmental disorder caused by pathogenic variants in the <em>AKT3</em>, <em>CCND2</em>, or <em>PIK3R2</em> genes. We present a patient with a rare <em>CCND2</em> variant (c.839C&gt;T, p.Thr280Ile), associated with infantile spasms, ventriculomegaly, polymicrogyria, and intraventricular hemorrhage (IVH).</div></div><div><h3>Methods</h3><div>A retrospective chart review and literature search were performed using PubMed.</div></div><div><h3>Results</h3><div>Our patient was found to have ventriculomegaly, grade 3 IVH, bilateral polymicrogyria, and restricted diffusion in the caudate nuclei prenatally. No polydactyly was observed. The patient developed infantile spasms at age 5 months. While high-dose prednisone treatment failed to control the spasms, they resolved with topiramate. By age 2 years, the patient continued to have significant developmental delays, including having poor tone and being nonverbal.</div></div><div><h3>Conclusion</h3><div>MPPH syndrome remains a rare and challenging diagnosis, with fewer than 100 cases reported. This case highlights the importance of early genetic testing and neuroimaging in the diagnosis and management of MPPH. The unique presentation of IVH and restricted diffusion warrants further investigation into the syndrome’s variable phenotypic spectrum. Early intervention and targeted therapy may help manage seizure activity and improve outcomes.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 185-187"},"PeriodicalIF":3.2,"publicationDate":"2024-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142426925","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Face and Features of RNU4-2: A New, Common, Recognizable, Yet Hidden Neurodevelopmental Disorder","authors":"Kristen Barbour MD ,&nbsp;Matthew N. Bainbridge PhD ,&nbsp;Kristen Wigby MD ,&nbsp;Aaron D. Besterman MD ,&nbsp;Nathaniel A. Chuang MD ,&nbsp;Laura E. Tobin MPH ,&nbsp;Miguel Del Campo MD ,&nbsp;Jerica Lenberg MS ,&nbsp;Lynne M. Bird MD ,&nbsp;Jennifer Friedman MD","doi":"10.1016/j.pediatrneurol.2024.09.015","DOIUrl":"10.1016/j.pediatrneurol.2024.09.015","url":null,"abstract":"<div><h3>Background</h3><div><em>RNU4</em>-<em>2</em> is a newly identified, noncoding gene responsible for a significant proportion of individuals with neurodevelopmental disorders (NDDs). Diagnosis is hampered by the inability of commonly employed clinical testing methods, including exome sequencing and currently formulated multigene panels, to detect variants in the noncoding region. The relatively high prevalence of this condition, predicted to affect thousands of undiagnosed children with NDDs, makes it even more relevant to have better tools to facilitate diagnosis. The initial report of the gene-disease association outlined aggregate phenotypic features but lacked detailed patient evaluations, potentially under-reporting phenotypic features and failing to highlight unique aspects. We aimed to identify individuals with <em>RNU4</em>-<em>2</em> gene variants to deeply phenotype the clinical profile. We sought to define key features that may suggest the diagnosis, to highlight individuals for whom specialized testing, able to detect noncoding region variants, may be indicated.</div></div><div><h3>Methods</h3><div>We reviewed genomic data from 6,734 individuals, identifying five with recurrent <em>de novo RNU4</em>-<em>2</em> (n.64_65insT) variants. We clinically evaluated four. Findings were compared with those previously reported.</div></div><div><h3>Results</h3><div>We identify common clinical features, a distinctive dysmorphic facial pattern, and shared imaging abnormalities. We describe novel aspects including longitudinal trajectory and treatment response.</div></div><div><h3>Conclusions</h3><div>Enhanced recognition of the <em>RNU4</em>-<em>2</em> (n.64_65insT-common variant) phenotype, particularly the dysmorphic facial features, will facilitate earlier diagnosis. Distinctive characteristics will guide the selection of patients for testing able to detect <em>RNU4</em>-<em>2</em> variants: genome sequencing or targeted gene testing. Furthermore, health and research systems may identify undiagnosed patients by querying databases for individuals exhibiting the traits described herein.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 188-193"},"PeriodicalIF":3.2,"publicationDate":"2024-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142444955","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Precision in Progress: Unraveling the Clinimetric Properties of Beery-Buktenica Developmental Test of Visual-Motor Integration in Children With Cerebral Palsy Across Diverse Motor Severities","authors":"Yu-Hsin Chen MD ,&nbsp;Chia-Ling Chen MD, PhD ,&nbsp;Wei-Hsien Hong PhD ,&nbsp;Chung-Yao Chen MD ,&nbsp;Chia-Ying Chung MD ,&nbsp;Katie P.H. Wu MD ,&nbsp;Ching-Yi Wu ScD ,&nbsp;Keh-Chung Lin ScD, OTR","doi":"10.1016/j.pediatrneurol.2024.09.017","DOIUrl":"10.1016/j.pediatrneurol.2024.09.017","url":null,"abstract":"<div><h3>Background</h3><div>In the realm of pediatric cerebral palsy (CP), visual motor challenges often overshadow a child's developmental journey. This study delves into the responsiveness and crucial benchmarks, specifically the minimal clinically important difference (MCID), of the Beery-Buktenica Developmental Test of Visual-Motor Integration (Beery VMI) among children with varying motor severities.</div></div><div><h3>Method</h3><div>Eighty-eight children with CP (50 males, 38 females; aged three to 12 years) with Gross Motor Function Classification System (GMFCS) levels I to III were recruited from the rehabilitation department of Chang Gung Memorial Hospital in Taiwan. Each participant received the Beery VMI tests at baseline and at one-year follow-up. The standardized response mean (SRM) was calculated to determine the responsiveness of Beery VMI, and a distribution-based approach was used to estimate MCID.</div></div><div><h3>Results</h3><div>The Beery VMI exhibited remarkable responsiveness across GMFCS levels I to III (SRM = 0.98-2.36). MCIDs for Beery VMI varied across severities, with ranges of 2.93 to 4.41 (0.2 S.D.), 7.31 to 11.49 (0.5 S.D.), and 11.70 to 18.38 (0.8 S.D.). Notably, in the visual perception subset, MCIDs were 3.93 to 4.03 (0.2 S.D.), 9.83 to 10.07 (0.5 S.D.), and 15.73 to 16.11 (0.8 S.D.). In the supplemental motor coordination subtest, MCIDs spanned 1.67 to 4.87 (0.2 S.D.), 4.18 to 12.17 (0.5 S.D.), and 6.68 to 19.47 (0.8 S.D.).</div></div><div><h3>Conclusions</h3><div>Beery VMI demonstrates robust responsiveness in children with CP. Motor-severity-tailored MCIDs offer a guide for clinicians and researchers, hinting at treatment efficacy. Particularly, lower change scores in VMI and motor coordination subtests may signal effective interventions for moderate motor disability over mild cases.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 139-143"},"PeriodicalIF":3.2,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142392412","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cortical Gyrification Is Associated With the Clinical Phenotype in Tuberous Sclerosis Complex","authors":"Nicolò Trevisan PhD ,&nbsp;Francesco Brunello MD ,&nbsp;Fabio Sambataro MD, PhD ,&nbsp;Gaia Biscalchin MD ,&nbsp;Margherita Nosadini MD, PhD ,&nbsp;Stefano Sartori MD, PhD ,&nbsp;Concetta Luisi MD, PhD ,&nbsp;Maria Federica Pelizza MD ,&nbsp;Renzo Manara MD ,&nbsp;Irene Toldo MD, PhD","doi":"10.1016/j.pediatrneurol.2024.09.012","DOIUrl":"10.1016/j.pediatrneurol.2024.09.012","url":null,"abstract":"<div><h3>Background</h3><div>Tuberous sclerosis complex (TSC) is characterized by cortical tubers, determining cortical disarrangement and consequently drug-resistant epilepsy, intellectual disability, and TSC-associated neuropsychiatric disorders (TAND).</div></div><div><h3>Aim of the study</h3><div>To establish whether gyrification index (GI), a software-based neuroradiological parameter, could be associated with the severity of phenotype in TSC, identifying the cortical regions that are more associated with the severity of the main clinical manifestations.</div></div><div><h3>Methods</h3><div>This was a retrospective cross-sectional study. Magnetic resonance imaging was acquired on a 1.5-T scanner. CAT12 toolbox was used for the estimation of GI. Data analysis was performed with Jamovi. The level of significance was set to <em>P</em> &lt; 0.05 for all tests.</div></div><div><h3>Results</h3><div>Forty-five patients with TSC and 42 healthy controls were included. Patients with TSC were characterized by higher total GI (<em>P</em> = 0.002) compared with healthy controls. Among patients with TSC, a higher total GI was associated with impaired neurological examination (<em>P</em> = 0.039), epilepsy (<em>P</em> = 0.017), intellectual disability (<em>P</em> = 0.013), TAND (<em>P</em> = 0.013), and higher number of cortical tubers (<em>P</em> &lt; 0.001). An increased local GI in specific cortical areas was associated with TAND and autism spectrum disorders.</div></div><div><h3>Conclusions</h3><div>GI is a software-based neuroradiological parameter that could represent a reliable overall prognostic marker in TSC. Local GI can be used to identify phenotype-specific gyrification patterns allowing an early characterization of patients with TSC.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 170-175"},"PeriodicalIF":3.2,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142406694","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}